Canonical Allele Identifier: CA2580072013

Gene: TERT

Linked Data

• ClinVar Variation Id: 2130791
• ClinVar RCV Id: RCV003047873

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1271135_1271951del , CM000667.2:g.1271135_1271951del	GRCh38
NC_000005.9:g.1271250_1272066del , CM000667.1:g.1271250_1272066del	GRCh37
NC_000005.8:g.1324250_1325066del	NCBI36
NG_009265.1:g.28098_28914del , LRG_343:g.28098_28914del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310581.10:c.2382+235_2453del
ENST00000656021.1:c.*1928+235_*1999del
ENST00000310581.9:c.2382+235_2453del
ENST00000334602.10:c.2382+235_2453del
ENST00000460137.6:c.2251-3317_2251-2501del	ENSP00000425003.1:n.2251-3317_2251-2501del
ENST00000484238.6:n.1100-3317_1100-2501del
ENST00000508104.2:c.2287-3317_2287-2501del	ENSP00000426042.2:n.2287-3317_2287-2501del
NM_001193376.1:c.2382+235_2453del
NM_198253.2:c.2382+235_2453del , LRG_343t1:c.2382+235_2453del
XM_011514104.1:c.852+235_923del
XM_011514105.1:c.738+235_809del
XM_011514106.1:c.738+235_809del
NR_149162.1:n.2345-3317_2345-2501del
NR_149163.1:n.2309-3317_2309-2501del
NM_001193376.2:c.2382+235_2453del
NM_198253.3:c.2382+235_2453del
NR_149162.2:n.2366-3317_2366-2501del
NR_149163.2:n.2330-3317_2330-2501del
NM_001193376.3:c.2382+235_2453del
NR_149162.3:n.2366-3317_2366-2501del
NR_149163.3:n.2330-3317_2330-2501del